Objective To determine changes in serum profiles and kidney tissues from patients with
spinal muscular atrophy (SMA) type 1 compared with age-and sex-matched controls …

With a prevalence of approximately 1/10 000, and a carrier frequency of 1/40–1/60 the
proximal spinal muscular atrophies (SMAs) are among the most frequent autosomal …

Objective Preclinical therapies that restore survival motor neuron (SMN) protein levels can
dramatically extend survival in spinal muscular atrophy (SMA) mouse models. Biomarkers …

Spinal muscular atrophy (SMA) is a genetic disorder caused by the deletion of the survival
motor neuron 1 (SMN1) gene that leads to loss of motor neurons in the spinal cord. Although …

Magnetic resonance imaging (MRI) of cervical spine was performed in 16 patients of
juvenile asymmetric segmental spinal muscular atrophy (JASSMA) in neutral and flexed …

Objective To determine the frequency and relative importance of symptoms experienced by
adults with spinal muscular atrophy (SMA) and to identify factors that are associated with a …

Brain magnetic resonance imaging was conducted in a girl with genetically confirmed spinal
muscular atrophy (SMA) type I. This patient has survived 6 years, to date, under mechanical …

Objective: To report on recent genetic and molecular discoveries and on future prospects for
the treatment of spinal muscular atrophy (SMA), thereby helping healthcare professionals to …

Purpose Early identification and treatment of spinal muscular atrophy (SMA) are crucial but
difficult. In this study, we aimed to assess the significance of compound motor action …

Background and purpose The aim was to assess the organization and short‐term changes
of motor units in adult patients with spinal muscular atrophy (SMA) treated with nusinersen …